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    Jph2 junctophilin 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 296345, updated on 14-Nov-2024

    Summary

    Official Symbol
    Jph2provided by RGD
    Official Full Name
    junctophilin 2provided by RGD
    Primary source
    RGD:1305196
    See related
    EnsemblRapid:ENSRNOG00000008170 AllianceGenome:RGD:1305196
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; core promoter sequence-specific DNA binding activity; and phospholipid binding activity. Predicted to be involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of ryanodine-sensitive calcium-release channel activity; and regulation of cardiac muscle tissue development. Predicted to act upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in Z disc; membrane; and nucleus. Predicted to be part of junctional membrane complex. Predicted to be active in endoplasmic reticulum membrane; plasma membrane; and sarcoplasmic reticulum. Biomarker of hypertrophic cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Heart (RPKM 867.4), Muscle (RPKM 862.3) and 2 other tissues See more
    Orthologs
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    Genomic context

    See Jph2 in Genome Data Viewer
    Location:
    3q42
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (172414246..172478678, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (151994768..152058941, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (159709998..159776536, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134486309 Neighboring gene TOX high mobility group box family member 2 Neighboring gene oxidative stress responsive serine-rich 1 Neighboring gene uncharacterized LOC120101779 Neighboring gene ganglioside-induced differentiation-associated protein 1-like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables core promoter sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables core promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-5-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-5-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylserine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of junctional membrane complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of junctional membrane complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    junctophilin-2
    Names
    JP-2
    junctophilin type 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037974.2NP_001033063.1  junctophilin-2

      See identical proteins and their annotated locations for NP_001033063.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/Swiss-Prot
      Q2PS20
      UniProtKB/TrEMBL
      A6JX22
      Conserved Domains (3) summary
      smart00698
      Location:307327
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      pfam01044
      Location:413497
      Vinculin; Vinculin family
      pfam02493
      Location:106128
      MORN; MORN repeat

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      172414246..172478678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006235526.5XP_006235588.1  junctophilin-2 isoform X1

      Related
      ENSRNOP00000010938.2, ENSRNOT00000010939.7
      Conserved Domains (3) summary
      smart00698
      Location:307327
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      pfam01044
      Location:413497
      Vinculin; Vinculin family
      pfam02493
      Location:106128
      MORN; MORN repeat